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Journal Abstract Search

161 related items for PubMed ID: 16261627

  • 1. A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction.
    Street VA, Kallman JC, Robertson NG, Kuo SF, Morton CC, Phillips JO.
    Am J Med Genet A; 2005 Dec 01; 139A(2):86-95. PubMed ID: 16261627
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  • 2. A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.
    Cho HJ, Park HJ, Trexler M, Venselaar H, Lee KY, Robertson NG, Baek JI, Kang BS, Morton CC, Vriend G, Patthy L, Kim UK.
    J Mol Med (Berl); 2012 Nov 01; 90(11):1321-1331. PubMed ID: 22610276
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  • 7. Targeted disruption of mouse Coch provides functional evidence that DFNA9 hearing loss is not a COCH haploinsufficiency disorder.
    Makishima T, Rodriguez CI, Robertson NG, Morton CC, Stewart CL, Griffith AJ.
    Hum Genet; 2005 Oct 01; 118(1):29-34. PubMed ID: 16078052
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  • 8. A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction.
    Robertson NG, Jones SM, Sivakumaran TA, Giersch AB, Jurado SA, Call LM, Miller CE, Maison SF, Liberman MC, Morton CC.
    Hum Mol Genet; 2008 Nov 01; 17(21):3426-34. PubMed ID: 18697796
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  • 10. Hearing and vestibular deficits in the Coch(-/-) null mouse model: comparison to the Coch(G88E/G88E) mouse and to DFNA9 hearing and balance disorder.
    Jones SM, Robertson NG, Given S, Giersch AB, Liberman MC, Morton CC.
    Hear Res; 2011 Feb 01; 272(1-2):42-8. PubMed ID: 21073934
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  • 14. Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9.
    Robertson NG, Resendes BL, Lin JS, Lee C, Aster JC, Adams JC, Morton CC.
    Hum Mol Genet; 2001 Oct 15; 10(22):2493-500. PubMed ID: 11709536
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  • 19. Distinct vestibular phenotypes in DFNA9 families with COCH variants.
    Kim BJ, Kim AR, Han KH, Rah YC, Hyun J, Ra BS, Koo JW, Choi BY.
    Eur Arch Otorhinolaryngol; 2016 Oct 15; 273(10):2993-3002. PubMed ID: 26758463
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